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Gene: Mbtps1 MGI:1927235

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
membrane-bound transcription factor peptidase, site 1
Synonyms:
SKI-1,  S1P,  subtilisin/kexin isozyme-1,  0610038M03Rik,  site-1 protease

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Mbtps1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Mbtps1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
OMIM:618392

The table below shows human diseases predicted to be associated to Mbtps1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... ORPHA:42665
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Griscelli Syndrome, Type 2
Silver-gray hair, Hypopigmentation of the skin, Reduced delayed hypersensitivity, Melanin pigment... OMIM:607624
Lymphoproliferative Syndrome, X-Linked, 2
Recurrent infections, Inflammation of the large intestine, Folliculitis, Hepatitis, Increased cir... OMIM:300635
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Necroti... OMIM:613860
Dyschromatosis Universalis Hereditaria
Hypopigmented skin patches, Spotty hypopigmentation, Multiple cafe-au-lait spots, Freckling, Hype... ORPHA:241
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Waardenburg Syndrome, Type 2B
Heterochromia iridis, White forelock, Premature graying of hair OMIM:600193
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... OMIM:619947
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Hypopigmentation of the skin, Recurrent bronchopulmonary infections OMIM:610798
Mhc Class Ii Deficiency 1
Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron... OMIM:209920
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Hypopigmentation of the skin, Dystrophic toenail, Sparse body hair, Onychogryposis of t... OMIM:617294
Woolly Hair
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... ORPHA:170
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Recurrent bronchopulmonary infections, Hypopigmentation of hair, Partial albinism ORPHA:90023
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Inflammation of the large intestine, Increased circulating IgE level, Recurrent otitis media, Abn... ORPHA:98813
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Increased circulating ferritin concentration, Abnor... OMIM:613101
Ermine Phenotype
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... OMIM:227010
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613265
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of the skin, Premature graying of hair, Generalized hyperpigmentation, Recurrent... ORPHA:33445
Immunodeficiency 37
Colitis, Recurrent infections, Decreased circulating antibody level, Infectious encephalitis OMIM:616098
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Vomiting, Diarrhea, Malnutrition, Hypocholesterolemia, Accu... OMIM:246700
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Inflammation of the large intestine, Reduce... OMIM:619281
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2435
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec... OMIM:308220
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Disseminated mollu... OMIM:617638
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abnormal hair morphology, Nail dystrophy, Hyperpigmentation ... ORPHA:46487
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Hypopigmentation of the skin, Dystrophic toenail, Abnormal fingernail morphology, Ridged nail, Ab... ORPHA:89838
Immunodeficiency 70
Decreased circulating total IgG, Recurrent sinusitis, Colitis, Achalasia, Furuncle, Decreased cir... OMIM:618969
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Inflammation of the large intestine, Mucoid diarrhea, Increased ... OMIM:615767
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Mottled pigmentation, Hypermelanotic macule, Nail dystrophy, Hypomelanotic macule, Spot... ORPHA:79397
Uncombable Hair Syndrome 3
Pili canaliculi, Brittle hair, Uncombable hair, Curly hair OMIM:617252
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Elevated circulating C-reactive protein concentration, Ulcerative colitis, Bloody diarrhea OMIM:619398
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Atopic dermatitis,... OMIM:618944
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hyperpigmentation of the skin, Hypopigmented skin patches ORPHA:2819
Phenylketonuria
Hypopigmentation of the skin, Hyperphenylalaninemia, Eczematoid dermatitis ORPHA:716
Waardenburg Syndrome, Type 2A
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... OMIM:193510
Griscelli Syndrome Type 1
Iris hypopigmentation, White hair, Premature graying of hair, Partial albinism, Hyperlipidemia ORPHA:79476
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Bronchiectasis, Decreased circulating IgA level, Crohn's disease... OMIM:618394
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis OMIM:613148
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Erythema nodosum, Atrophic gastritis... OMIM:614700
Hypothyroidism, Congenital, Nongoitrous, 8
Constipation, Hypercholesterolemia, Secondary amenorrhea OMIM:301033
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia, Fat malabsorption OMIM:614338
Hypotrichosis 8
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... OMIM:278150
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Abnormal hair morphology, Alopecia of ... ORPHA:69125
Secondary Intestinal Lymphangiectasia
Intestinal bleeding, Intestinal obstruction, Celiac disease, Gastrointestinal eosinophilia, Secon... ORPHA:90363
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Protein-losing enteropathy, Diarrhea, Vomiting, Abdominal colic, Villous atrophy... OMIM:615863
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Azoospermia, Hy... OMIM:615703
Uncombable Hair Syndrome 1
Dry hair, Pili canaliculi, Uncombable hair OMIM:191480
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... OMIM:203200
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Recurrent mycobacterial infections, Abnormal circulating interleukin concentration, Re... ORPHA:319552
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Increased circulating interleukin 8 concentration, Frontal upsweep of hair, ... OMIM:301220
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Trichohepatoenteric Syndrome 2
Decreased circulating iron concentration, Diarrhea, Trichorrhexis nodosa, Villous atrophy, Chroni... OMIM:614602
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections... ORPHA:436159
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Colitis, Minimal change glomerulonephritis OMIM:617006
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Immunodeficiency 58
Allergic rhinitis, Molluscum contagiosum, Esophagitis, Dysphagia, Chronic otitis media, Recurrent... OMIM:618131
Tietz Albinism-Deafness Syndrome
Heterochromia iridis, White eyebrow, White eyelashes, Generalized hypopigmentation, Blue irides OMIM:103500
Immunodeficiency 97 With Autoinflammation
Decreased circulating IgG level, Diarrhea, Eczematoid dermatitis, Increased circulating ferritin ... OMIM:619802
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Psoriasiform dermatitis, Decreased LDL cholesterol concentration, Decreased ... OMIM:616834
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Hypogonadotropic hypogonadism, Feeding diffi... ORPHA:177910
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo... ORPHA:895
Alopecia Totalis
Inflammation of the large intestine, Alopecia totalis, Vitiligo, Alopecia of scalp, Onycholysis, ... ORPHA:700
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Diarrhea, Partial absence of specific antibody response to t... OMIM:618108
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... ORPHA:79433
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Abnormality of tumor necrosis factor secretion, Increased circulating interferon... ORPHA:540
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Spotty hyperpigmentation, Nail dystrophy, Hypomelanotic macule, Mixed hypo- and hyperpigmentation... ORPHA:79399
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Bloom Syndrome
Neoplasm of the colon, Stomach cancer, Severe toxoplasmosis, Sparse eyelashes, Oligozoospermia, P... ORPHA:125
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Recurren... OMIM:614878
Albinism, Oculocutaneous, Type Vi
Fair hair, Generalized hypopigmentation OMIM:113750
Woolly Hair Nevus
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl... ORPHA:79414
Gemignani Syndrome
Hypopigmented skin patches ORPHA:2074
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, A... ORPHA:37042
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Secretory diarrhea, Increased circulating ferritin concentration, Reduced natura... OMIM:616050
X-Linked Agammaglobulinemia
Recurrent pneumonia, Sepsis, Alopecia, Hypopigmented skin patches, Hepatitis, Osteomyelitis, Mala... ORPHA:47
Squalene Synthase Deficiency
Hypocholesterolemia, Abnormality of hair pigmentation, Gastrostomy tube feeding in infancy, Decre... OMIM:618156
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Recurrent mycobacterial infections, Decreased lymphocyte proliferation in response to ... ORPHA:911
Drug-Induced Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... ORPHA:2885
Phenylketonuria
Fair hair, Eczematoid dermatitis, Maternal hyperphenylalaninemia, Hyperphenylalaninemia, Blue iri... OMIM:261600
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Caspase 8 Deficiency
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA leve... OMIM:607271
Secondary Short Bowel Syndrome
Sepsis, Diarrhea, Vomiting, Volvulus, Malnutrition, Malabsorption, Villous atrophy, Abnormal smal... ORPHA:95427
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Alopecia, Ridged fingernail, Hypopigmented skin patches, Fingernail... ORPHA:2251
Hermansky-Pudlak Syndrome 1
Hematochezia, Inflammation of the large intestine, Hypopigmentation of the skin, Ocular albinism,... OMIM:203300
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Impaired T cell function, Recurre... OMIM:240500
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Agan... OMIM:277580
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased liver function, Decrease... OMIM:616829
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Irregular hyperpigmentation, Abnormal eyebrow morphology, Decreased fertility, Generalized hirsut... ORPHA:1816
Griscelli Syndrome
Silver-gray hair, Bone marrow hypocellularity, Iris hypopigmentation, Hypopigmented skin patches,... ORPHA:381
Autoimmune Hepatitis
Inflammation of the large intestine, Gastrointestinal hemorrhage, Increased total bilirubin, Viti... ORPHA:2137
Infantile Sialic Acid Storage Disease
High palate, Hypopigmentation of the skin, Conjugated hyperbilirubinemia, Fair hair OMIM:269920
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention OMIM:616868
Potocki-Lupski Syndrome
Gastroesophageal reflux, Oral-pharyngeal dysphagia, Hypocholesterolemia, Feeding difficulties in ... OMIM:610883
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Waardenburg-Shah Syndrome
Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi... ORPHA:897
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Recurrent mycobacterial infections, Recurrent viral infections, ... ORPHA:275
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Colitis ORPHA:88643
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea OMIM:219095
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Recurrent bronchitis, Pancolitis, Perianal abscess, Enterocolitis, Enterocutaneous ... OMIM:612567
5-Oxoprolinase Deficiency
Abdominal pain, Vomiting, Diarrhea, Enterocolitis OMIM:260005
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Impaired platelet aggregation OMIM:614072
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent viral infections, Diarrhea, Protracted diarrhea, Acute otitis media, Decreased lymphocy... ORPHA:572
Griscelli Syndrome Type 2
Iris hypopigmentation, Premature graying of hair, Partial albinism, Hyperlipidemia, Nausea and vo... ORPHA:79477
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatic failure, Diarrhea, Hypocholesterolemia, Acholic stools, Steatorrhea... OMIM:607765
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Hypopigmentation of the skin ORPHA:2513
Vici Syndrome
Decreased circulating IgG level, Hypopigmentation of the skin, Recurrent respiratory infections, ... ORPHA:1493
Lipodystrophy, Familial Partial, Type 6
Hypopigmentation of the skin, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated ... OMIM:615980
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti... OMIM:613960
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... OMIM:619079
Immunodeficiency 76
Colitis, Recurrent pneumonia, Chronic diarrhea, Recurrent bronchiolitis OMIM:619164
Alg12-Cdg
Hypoalbuminemia, Recurrent pneumonia, Sepsis, Gastroesophageal reflux, Small nail, Abnormal circu... ORPHA:79324
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Inflammation of the large intestine, Diarrhea, Anoperineal fistula, Chronic gastritis, Esophagiti... OMIM:301074
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypopigmented skin patches, Multiple lentigines, Progressive hyperpigmentation, Vitiligo, Hyperme... OMIM:145250
Classic Phenylketonuria
Hypopigmentation of the skin, Eczematoid dermatitis, Nausea and vomiting, Hyperphenylalaninemia, ... ORPHA:79254
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... OMIM:615558
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ileal atresia, Colonic atresia, Bloody diarrhea, Intestinal malrotation, Psoriasifo... OMIM:243150
Focal Facial Dermal Dysplasia Type I
Sparse lateral eyebrow, Spotty hyperpigmentation, Low anterior hairline, Absent eyelashes, Spotty... ORPHA:79133
Piebald Trait
Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... OMIM:172800
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Intermittent diarrhea, Interst... OMIM:616433
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Depigmentation/hyperpigmentation of skin, Alopecia, Sepsis, Hypopigmentation of ... ORPHA:79396
Xeroderma Pigmentosum Variant
Freckles in sun-exposed areas, Hypopigmentation of the skin, Keratitis, Hyperpigmentation of the ... ORPHA:90342
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Cog4-Cdg
Recurrent upper respiratory tract infections, Recurrent infection of the gastrointestinal tract, ... ORPHA:263501
Idiopathic Localized Lipodystrophy
Inflammatory abnormality of the skin, Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90158
Albinism-Deafness Syndrome
Albinism, Patchy hypo- and hyperpigmentation, Piebald skin depigmentation, Ocular albinism OMIM:300700
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... OMIM:266600
Syndromic Diarrhea
Intractable diarrhea, Panhypogammaglobulinemia, Trichorrhexis nodosa, Villous atrophy, Colitis, H... ORPHA:84064
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Feeding difficulti... ORPHA:411515
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Arthritis, Elevated circulating C-reactive protein concentration, Colitis, Sterile arthritis, Cys... OMIM:604416
Immunodeficiency, Common Variable, 1
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Impaired T cell functi... OMIM:607594
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypertriglyceridemia, Hirsutism, Hypercholesterolemia, Primary amenorrhea OMIM:612526
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... OMIM:619868
Porphyria Cutanea Tarda
Increased circulating iron concentration, Hypopigmentation of the skin, Cutaneous abscess, Increa... ORPHA:101330
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... OMIM:620430
Yemenite Deaf-Blind Hypopigmentation Syndrome
White forelock, Numerous pigmented freckles, Patchy hypo- and hyperpigmentation OMIM:601706
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Bloom Syndrome
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Hypopigmentation o... OMIM:210900
Waardenburg Syndrome, Type 3
Hypopigmented skin patches, Premature graying of hair, Partial albinism, White forelock, Heteroch... OMIM:148820
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Sparse eyebrow, Feeding difficulties in infancy, Brittle hair OMIM:618810
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Nail dystrophy, Colitis, Decreased circulating antibody level, Esoph... OMIM:615190
Hirschsprung Disease, Susceptibility To, 1
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Enterocolitis, Constipatio... OMIM:142623
T-Cell Immunodeficiency With Thymic Aplasia
Diarrhea, Meningitis, Chronic otitis media, Decreased lymphocyte proliferation in response to mit... ORPHA:83471
Radiation Proctitis
Hematochezia, Diarrhea, Sepsis, Arteritis, Tenesmus, Abnormal rectum morphology, Intestinal obstr... ORPHA:70475
Cholesteryl Ester Storage Disease
Hepatic failure, Diarrhea, Nausea and vomiting, Hypercholesterolemia, Hypertriglyceridemia, Esoph... ORPHA:75234
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Vomiting, Elevated circulating creatine kinase concentration, Abdominal pain, High palate, Necrot... OMIM:616809
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Elevated circulating phytanic acid concentration, Hypocholesterolemia OMIM:266510
Chylomicron Retention Disease
Vomiting, Diarrhea, Hypocholesterolemia, Abdominal distention, Steatorrhea, Fat malabsorption ORPHA:71
Vici Syndrome
Decreased circulating IgG level, Cutaneous anergy, Recurrent viral infections, Albinism, Chronic ... OMIM:242840
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... ORPHA:79435
Maternal Uniparental Disomy Of Chromosome X
Low posterior hairline, Azoospermia, Hypopigmentation of the skin, Hepatic failure ORPHA:261519
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vitiligo, Abn... ORPHA:3437
Obesity And Hypopigmentation
Red hair OMIM:620195
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Decreased circulating IgG level, Diarrhea, Vomiting, Hypocholesterolemia, Decrea... OMIM:212065
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, Decreased circulating total IgG, Anoperineal fistula, Pustular rash, Recurrent otitis m... OMIM:619381
Obesity Due To Prohormone Convertase I Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71526
Waardenburg Syndrome Type 1
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic... ORPHA:894
Chédiak-Higashi Syndrome
Periodontitis, Recurrent streptococcal infections, Hypoproteinemia, Hypopigmentation of the skin,... ORPHA:167
Alg3-Cdg
Hypopigmentation of the skin, Decreased liver function, Abnormality of the gastrointestinal tract... ORPHA:79321
Piebaldism
Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,... ORPHA:2884
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... ORPHA:79432
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia, Villous atrophy OMIM:608776
Dubowitz Syndrome
Decreased circulating IgG level, Gastroesophageal reflux, Sparse lateral eyebrow, Velopharyngeal ... OMIM:223370
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Anoperineal fistula, Increased circulating IgE level, Pancolitis, Decreased T cell activation, Eo... OMIM:618213
Menkes Disease
Alopecia, Hypopigmentation of the skin, Brittle hair, Decreased circulating ceruloplasmin concent... OMIM:309400
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Hypopigmentation of the skin, Sparse hair, Feeding difficulties, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Heterochromia iridis, ... ORPHA:998
Focal Facial Dermal Dysplasia Type Iii
Highly arched eyebrow, Sparse lateral eyebrow, Hypopigmented skin patches, Distichiasis, Abnormal... ORPHA:1807
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Recurrent otitis media, High palate, Hypercholesterolemia, Feeding difficulties ORPHA:254531
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Eczematoid dermatitis, Anal fissure, I... OMIM:618935
Ataxia-Telangiectasia
Premature graying of hair, Multiple cafe-au-lait spots, Recurrent respiratory infections, Decreas... ORPHA:100
Chediak-Higashi Syndrome
Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Periodontitis, Ocular albi... OMIM:214500
Sweet Syndrome
Abnormal circulating interleukin concentration, Inflammation of the large intestine, Acne inversa... ORPHA:3243
Hermansky-Pudlak Syndrome 2
Albinism, Recurrent pneumonia, Gastroesophageal reflux, Periodontitis, Fair hair, Ocular albinism... OMIM:608233
Primary Biliary Cholangitis
Hypoalbuminemia, Hepatic failure, Abdominal distention, Hepatitis, Abnormal circulating lipid con... ORPHA:186
Hyperinsulinemic Hypoglycemia, Familial, 8
Increased C-peptide level, Hypercholesterolemia, Hyperammonemia, Chronic constipation OMIM:620211
Maternal Uniparental Disomy Of Chromosome 4
Pigmentary retinopathy, Diarrhea, Malnutrition, Hypocholesterolemia, Abetalipoproteinemia, Elevat... ORPHA:96180
Cyclic Neutropenia
Recurrent tonsillitis, Sepsis, Periodontitis, Opportunistic infection, Otitis media, Peritonitis,... ORPHA:2686
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Immunodeficiency With Hyper-Igm, Type 1
Diarrhea, Enteroviral encephalitis, Increased circulating IgA level, Meningitis, Recurrent lower ... OMIM:308230
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi... ORPHA:79434
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, White eyelashes, Blue... ORPHA:352731
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Odontotrichoungual-Digital-Palmar Syndrome
Abnormality of hair texture, Nail dysplasia, Hypopigmentation of the skin, Nail dystrophy OMIM:601957
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Sepsis In Premature Infants
Diarrhea, Vomiting, Invasive fungal infection, Decreased liver function, Functional abnormality o... ORPHA:90051
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Decreased specific anti-polysaccharide antibody level, Impai... OMIM:614576
Classic Mycosis Fungoides
Alopecia, Irregular hyperpigmentation, Hypopigmented skin patches, Eczematoid dermatitis, Skin ra... ORPHA:2584
Hyperlipoproteinemia, Type Id
Increased circulating chylomicron concentration, Decreased HDL cholesterol concentration, Hyperli... OMIM:615947
Porphyria Variegata
Hypopigmentation of the skin, Hypertrichosis, Ileus, Abnormal circulating porphyrin concentration... ORPHA:79473
Shigellosis
Anorexia, Abdominal pain, Abnormal blood ion concentration, Intestinal perforation, Bloody mucoid... ORPHA:810
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of the skin, Protruding tongue, Hypopigmentation of hair,... ORPHA:98795
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... ORPHA:35078
Hermansky-Pudlak Syndrome 6
Recurrent upper respiratory tract infections, Hypopigmentation of the skin, Recurrent urinary tra... OMIM:614075
Anonychia With Flexural Pigmentation
Anonychia, Axillary and groin hyperpigmentation and hypopigmentation OMIM:106750
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the skin, Recurrent skin infections, Abnormal platelet aggregation, Ocular al... OMIM:614171
Papillon-Lefèvre Syndrome
Abnormality of the nail, Periodontitis, Hypopigmented skin patches, Sparse body hair, Abnormal fi... ORPHA:678
Congenital Disorder Of Glycosylation, Type Iio
Hepatic failure, Increased LDL cholesterol concentration, Elevated circulating creatine kinase co... OMIM:616828
Naegeli-Franceschetti-Jadassohn Syndrome
Subungual hyperkeratosis, Hypopigmentation of the skin, Decreased number of sweat glands, Dystrop... ORPHA:69087
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Skin rash, Ileal ulcer, Anterior uveitis OMIM:616744
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Infection-Related Hemolytic Uremic Syndrome
Diarrhea, Abdominal pain, Meningitis, Hyperkalemia, Intestinal perforation, Abnormal circulating ... ORPHA:544482
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Generalized reticulate brown pigmentation, Hyperpigmentation of the skin, Spotty hyperpigmentatio... ORPHA:158681
Autoimmune Polyendocrinopathy Type 1
Alopecia, Chronic mucocutaneous candidiasis, Increased circulating cortisol level, Hypopigmented ... ORPHA:3453
Kaufman Oculocerebrofacial Syndrome
Sparse eyebrow, Intestinal malrotation, Hypocholesterolemia, Feeding difficulties in infancy, Con... OMIM:244450
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Increased circulating antibody level, Increased circulating IgA ... ORPHA:3261
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Al-Raqad Syndrome
Hypopigmentation of the skin, Chronic constipation OMIM:616459
Waardenburg Syndrome
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, White foreloc... ORPHA:3440
Temple Syndrome
Bifid uvula, Recurrent otitis media, Feeding difficulties, Hypercholesterolemia, Hypertriglycerid... OMIM:616222
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Protruding tongue, Hypopigmentation of hair,... ORPHA:411511
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hypermethioninemia, Hypopigmentation of the skin, Pancreatitis, Hyperhomocystinemia, Brittle hair... OMIM:236200
Limited Cutaneous Systemic Sclerosis
Gastroesophageal reflux, Hypopigmented skin patches, Nausea and vomiting, Abnormality of skin pig... ORPHA:220402
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Irregular menstruation, Thyroiditis, Inflammation of the large intestine, Diarrhea, Periodontitis... ORPHA:79259
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Diarrhea, Increased circulating IgE level, Abnormal delayed ... OMIM:301000
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Increased circulating antibody level, Hypercholesterolemia, Recu... ORPHA:86816
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Allergic rhinitis, Atopic dermatitis, Gastroesophageal reflux, Vomiting, Eosinophilic microabsces... ORPHA:411696
Chronic Actinic Dermatitis
Allergic rhinitis, Eczematoid dermatitis, Hypopigmented skin patches, Progressive hyperpigmentati... ORPHA:330064
Autoimmune Polyendocrinopathy Type 2
Alopecia, Hypopigmented skin patches, Hypogonadism, Hashimoto thyroiditis, Celiac disease ORPHA:3143
Congenital Generalized Lipodystrophy
Hypertrichosis, Low anterior hairline, Low posterior hairline, Amenorrhea, Hypercholesterolemia, ... ORPHA:528
Sea-Blue Histiocytosis
Hypopigmentation of the skin, Blepharitis, Hyperpigmentation of the skin ORPHA:158029
Galactokinase Deficiency
Feeding difficulties, Hypercholesterolemia, Increased level of galactitol in plasma, Premature ov... ORPHA:79237
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi... ORPHA:79431
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Sparse hair, Bifid... OMIM:222470
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot OMIM:618541
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Diarrhea, Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Gastroi... ORPHA:247598
Lichen Planopilaris
Alopecia, Hepatitis, Hypopigmented skin patches, Abnormal fingernail morphology, Abnormal intesti... ORPHA:525
Deafness-Vitiligo-Achalasia Syndrome
Achalasia, Hypopigmented skin patches ORPHA:3239
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Bifid uvula, Recurrent otitis media, Feeding difficulties, Hypercholesterolemia, High palate, Cle... ORPHA:96184
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Hirsutism, Hypercholesterolemia, Osteoarthritis, Acne ORPHA:77296
Pseudomyxoma Peritonei
Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Constipation, A... ORPHA:26790
Abetalipoproteinemia
Hypoalbuminemia, Hypotriglyceridemia, Vomiting, Hypocholesterolemia, Abnormal circulating apolipo... ORPHA:14
Mandibuloacral Dysplasia
Alopecia, Increased circulating free fatty acid level, Hypoplastic fingernail, Abnormal tongue mo... ORPHA:2457
Macrophage Activation Syndrome
Hypoalbuminemia, Abnormal circulating interleukin concentration, Hepatitis, Abnormality of tumor ... ORPHA:158061
Acquired Hypertrichosis Lanuginosa
Fine hair, Abnormal eyebrow morphology, Generalized hirsutism, Glossitis, Macroglossia, Hypopigme... ORPHA:2221
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Xerostomia, Nasogastric tube feeding, Hypogonadism, Hypogonadotropi... ORPHA:398079
Angelman Syndrome
Iris hypopigmentation, Hypopigmentation of the skin, Gastroesophageal reflux, Fair hair, Vomiting... ORPHA:72
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia OMIM:306000
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Diarrhea, Vomiting, Elevated circulating creatine kinase concentration, D... ORPHA:79240
Hermansky-Pudlak Syndrome
Iris hypopigmentation, Menometrorrhagia, Gastrointestinal hemorrhage, Hypopigmentation of the ski... ORPHA:79430
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent upper respiratory tract infections, Diarrhea, Inflammatory abnormality of the skin, Chr... ORPHA:391487
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Inflammation of the large intestine, Oral leukoplakia, Esophageal st... OMIM:620133
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of the skin, Protruding tongue, Constipation, Hypopigment... ORPHA:98794
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Enterocolitis OMIM:620425
Slc35A2-Cdg
Hypopigmentation of the skin, Gastroesophageal reflux, Nasogastric tube feeding, Increased circul... ORPHA:356961
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Hypopigmented skin patches ORPHA:1825
Zygomycosis
Diarrhea, Ileitis, Pustule, Acute infectious pneumonia, Abdominal pain, Endocarditis, Gastrointes... ORPHA:73263
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Lymphadenitis, Eczematoid dermatitis, Nail dys... OMIM:615895
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormal circulating interleukin concentration, Diarrhea, Vomiting, Increased circulating interfe... ORPHA:542323
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Abnormal circulating interleukin concentration, Hepatic failure, Increased circulating ferritin c... ORPHA:158057
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Hepatic failure, Recurrent viral infections, Sepsis, Secretory diarrhea, Pers... OMIM:619573
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hypopigmented skin patches, Decreased circulating IgA level, Intestinal polyp, Lactose intoleranc... ORPHA:457485
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Xerostomia, Gastroesophageal reflux, Nasogastric tube feeding, Hypo... ORPHA:398069
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Irregular menstruation, Diarrhea, Vomiting, Elevated circulating creatine kinase concentration, D... ORPHA:264580
Pyoderma Gangrenosum
Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ... ORPHA:48104
Dyskeratosis Congenita, Digenic
Decreased circulating IgG level, Alopecia, Gastroesophageal reflux, Oral leukoplakia, Decreased c... OMIM:620040
Rothmund-Thomson Syndrome
Sparse eyebrow, Hypopigmentation of the skin, Diarrhea, Small nail, Vomiting, Alopecia totalis, M... ORPHA:2909
Angelman Syndrome
Hypopigmentation of the skin, Fair hair, Protruding tongue, Feeding difficulties in infancy, Cons... OMIM:105830
Immunodeficiency 92
Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta... OMIM:619652
Citrullinemia Type Ii
Hypoalbuminemia, Diarrhea, Vomiting, Decreased HDL cholesterol concentration, Delayed menarche, H... ORPHA:247585
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Alopecia, Atrichia, Nail dystrophy, Spotty hypopigmentation, Hyperpigmentation of the ... ORPHA:1867
Attenuated Chédiak-Higashi Syndrome
Recurrent respiratory infections, Generalized hypopigmentation, Ocular albinism ORPHA:352723
Dowling-Degos Disease
Inguinal freckling, Acne inversa, Hypermelanotic macule, Abnormal fingernail morphology, Mixed hy... ORPHA:79145
Prader-Willi Syndrome
Decreased HDL cholesterol concentration, Frontal upsweep of hair, Chronic constipation, Primary a... OMIM:176270
Prader-Willi Syndrome
Hypopigmentation of the skin, Xerostomia, Periodontitis, Erysipelas, Vomiting, Hypogonadism, Gast... ORPHA:739
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Premature graying of hair, Hypogonadism, White forelock, Heterochromi... OMIM:613266
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain OMIM:191390
Adult Acute Respiratory Distress Syndrome
Pneumonia, Abnormal circulating interleukin concentration, Sepsis, Abnormality of tumor necrosis ... ORPHA:70578
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Hematochezia, Inflammation of the large intestine, Recurrent pneumonia, Blepharitis, Skin rash, C... OMIM:617718
Lichen Planus Pemphigoides
Conjunctivitis, Hypopigmented streaks, Blepharitis, Abnormality of the nail ORPHA:254478
Immunodeficiency 47
Decreased circulating total IgG, Chronic decreased circulating total IgG, Exocrine pancreatic ins... OMIM:300972
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan... ORPHA:324964
Acute Radiation Syndrome
Diarrhea, Vomiting, Hypopigmentation of the skin, Inflammatory abnormality of the skin, Interstit... ORPHA:454831
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Gastroesophageal reflux, Decreased circulating carnitine concentration, Hyperammonemia, Elevated ... OMIM:201475
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent aspiration pneumonia, Abnormal circulating interleukin concentration, Recurrent viral i... ORPHA:79124
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Diarrhea, Vomiting, Bloody diarrhea, Acute colitis, Elevated circulating creatinine concentration... ORPHA:90038
Smith-Magenis Syndrome
Velopharyngeal insufficiency, Constipation, Hypercholesterolemia, Hypertriglyceridemia, Synophrys OMIM:182290
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of the skin, Gastroparesis, Hypogonadotropic hypogonadism... ORPHA:98754
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Gastroesophageal reflux, Decreased liver function, Gastrostomy tube feeding in infancy, Hypopigme... ORPHA:70472
Iga Pemphigus
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Increased circulating IgA leve... ORPHA:555905
Hepatoerythropoietic Porphyria
Seborrhoeic blepharitis, Facial hypertrichosis, Hypopigmentation of the skin, Abnormal circulatin... ORPHA:95159
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of the skin, Gastroparesis, Hypogonadotropic hypogonadism... ORPHA:98793
Hermansky-Pudlak Syndrome 8
Silver-gray hair, Ocular albinism, Iris transillumination defect, Blue irides, Generalized hypopi... OMIM:614077
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Symmetric polyarthritis, Synovitis, Arthritis, El... ORPHA:85435
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, High, narrow palate, Hypopigmented skin patches, Hyperpigmentation of the ... ORPHA:3214
Rothmund-Thomson Syndrome Type 1
Hypopigmentation of the skin, Diarrhea, Vomiting, Nasogastric tube feeding, Hypogonadism, Alopeci... ORPHA:221008
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Iris hypopigmentation, Hypopigmentation of the skin, Gastroparesis, Hypogonadotropic hypogonadism... ORPHA:177904
Glycogen Storage Disease Ib
Inflammation of the large intestine, Xanthelasma, Hyperlipidemia, Gout, Hyperuricemia, Pancreatit... OMIM:232220
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Diarrhea, Protracted diarrhea, Acute colitis, Intestinal obstruction, Constricti... ORPHA:67
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Iris hypopigmentation, Hypopigmentation of the skin, Gastroparesis, Hypogonadotropic hypogonadism... ORPHA:177901
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Recurrent viral infections, Colonic eosinophilia, Membranous nephropathy, Eosi... OMIM:618999
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Minimal change glomerulonephritis, Abnormal circulating lipid concentration, Per... ORPHA:567548
Cholesteryl Ester Storage Disease
Hepatic failure, Diarrhea, Vomiting, Acute hepatic failure, Increased LDL cholesterol concentrati... OMIM:278000
Autoinflammatory Disease, Systemic, With Vasculitis
Atopic dermatitis, Diarrhea, Increased circulating interleukin 6 concentration, Conjunctivitis, P... OMIM:620376
Degcags Syndrome
Oral-pharyngeal dysphagia, Premature graying of hair, Hyperbilirubinemia, Protruding tongue, Low ... OMIM:619488
Dyskeratosis Congenita
Periodontitis, Hypopigmented skin patches, White hair, Premature graying of hair, Sparse hair, Es... ORPHA:1775
Laron Syndrome
Hypercholesterolemia, Osteoarthritis ORPHA:633
Lysinuric Protein Intolerance
Diarrhea, Increased LDL cholesterol concentration, Hyperglycinemia, Increased circulating antibod... ORPHA:470
Thymoma
Rheumatoid arthritis, Ulcerative colitis, Abnormal lymphocyte physiology, Myositis, Glomeruloneph... ORPHA:99867
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
Hartnup Disease
Irregular hyperpigmentation, Hypopigmented skin patches, Malabsorption, Skin rash, Infectious enc... ORPHA:2116
Ermine Phenotype
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ... ORPHA:999
Prader-Willi Syndrome Due To Translocation
Iris hypopigmentation, Bifid uvula, Hypopigmentation of the skin, High palate, Hypogonadotropic h... ORPHA:177907
Porphyria, Congenital Erythropoietic
Alopecia, Hypopigmentation of the skin, Hypertrichosis, Elevated circulating uroporphyrin concent... OMIM:263700
Muenke Syndrome
High, narrow palate, Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches ORPHA:53271
Congenital Erythropoietic Porphyria
Seborrhoeic blepharitis, Facial hypertrichosis, Hypopigmentation of the skin, Abnormal circulatin... ORPHA:79277
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Hyperbilirubinemia, Interface hepatitis, Sclerosing cholangi... ORPHA:562639
Pontocerebellar Hypoplasia, Type 7
Hypopigmentation of the skin, Hirsutism, High palate, Feeding difficulties, Synophrys OMIM:614969
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Pancreatitis, Hypercholesterolemia, Decreased ci... OMIM:207750
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Albinism, Oculocutaneous, Type Ia
White hair, Ocular albinism, Absent skin pigmentation, Blue irides, Albinism, Hypopigmentation of... OMIM:203100
Hypomelanosis Of Ito
Alopecia, Macular hypopigmented whorls, streaks, and patches OMIM:300337
Tangier Disease
Hypocholesterolemia, Abdominal pain, Nail dystrophy, Hypertriglyceridemia ORPHA:31150
Intellectual Disability And Myopathy Syndrome
Spotty hypopigmentation, Atopic dermatitis, Cafe-au-lait spot OMIM:619719
Schimmelpenning-Feuerstein-Mims Syndrome
Hypopigmentation of the skin, Alopecia, Hypophosphatemic rickets OMIM:163200
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Minimal change glomerulonephritis, Hypercholesterolemia, High palate, Cleft palate OMIM:616730
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Localized Scleroderma
Gastroesophageal reflux, Hypopigmented skin patches, Abnormal skin adnexa morphology, Fasciitis, ... ORPHA:90289
Hyperlipoproteinemia, Type I
Lactescent serum, Vomiting, Increased circulating chylomicron concentration, Hyperlipidemia, Epis... OMIM:238600
9Q31.1Q31.3 Microdeletion Syndrome
Highly arched eyebrow, Hypercholesterolemia, Thick hair ORPHA:401923
Crouzon Syndrome
Narrow palate, Conjunctivitis, Melanocytic nevus, Hypopigmented skin patches ORPHA:207
Reactive Arthritis
Inflammation of the large intestine, Diarrhea, Recurrent urinary tract infections, Osteomyelitis,... ORPHA:29207
Smith-Magenis Syndrome
Gastroesophageal reflux, Feeding difficulties in infancy, Constipation, Hypercholesterolemia, Hyp... ORPHA:819
Kindler Epidermolysis Bullosa
Cheilitis, Inflammation of the large intestine, Periodontitis, Esophagitis, Abnormal toenail morp... ORPHA:2908
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Abnormal hair whorl, Nail dystrophy, Hirsutism, Low posterior hairline, Spotty hypopigmentation, ... OMIM:300860
Sapho Syndrome
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Malabsorption, Chron... ORPHA:793
Epidermodysplasia Verruciformis
Hypopigmented skin patches, Pustule, Seborrheic dermatitis, Multiple cafe-au-lait spots, Recurren... ORPHA:302
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Microcolon, Hypopigmented skin patches, Premature graying of hair, Hypogonadism, Abnormal eyebrow... ORPHA:163746
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Bifid uvula, Vomiting, Gastroesophageal reflux, Eczematoid dermatitis, Poor suck... OMIM:270400
Xeroderma Pigmentosum, Complementation Group C
Conjunctivitis, Hypopigmentation of the skin, Keratitis, Freckling OMIM:278720
Mucolipidosis Ii Alpha/Beta
Increased serum beta-hexosaminidase, Recurrent pneumonia, Hypopigmentation of the skin, Sparse ey... OMIM:252500
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Bone marrow hypocellularity, Enterocolitis OMIM:301108
Rothmund-Thomson Syndrome Type 2
Hypopigmentation of the skin, Diarrhea, Vomiting, Nasogastric tube feeding, Alopecia totalis, Fun... ORPHA:221016
Cholestasis, Progressive Familial Intrahepatic, 8
Sclerosing cholangitis, Increased serum bile acid concentration, Hypercholesterolemia, Conjugated... OMIM:619662
Large Congenital Melanocytic Nevus
Generalized hirsutism, Congenital giant melanocytic nevus, Hypopigmented skin patches, Abnormalit... ORPHA:626
Systemic Sclerosis
Intestinal bleeding, Glomerulonephritis, Recurrent skin infections, Dysphagia, Bowel incontinence... ORPHA:90291
Glycogen Storage Disease Ic
Inflammation of the large intestine, Recurrent upper respiratory tract infections, Xanthelasma, H... OMIM:232240
Eosinophilic Granulomatosis With Polyangiitis
Gastroesophageal reflux, Hypopigmented skin patches, Malabsorption, Nausea and vomiting, Skin ras... ORPHA:183
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Dyspha... ORPHA:64753
Mismatch Repair Cancer Syndrome 1
Hypopigmentation of the skin, Adenomatous colonic polyposis, Adenocarcinoma of the small intestin... OMIM:276300
Phakomatosis Pigmentovascularis
Generalized hyperpigmentation, Hypopigmented skin patches ORPHA:2875
Waardenburg Syndrome, Type 2E
Iris hypopigmentation, Hypopigmented skin patches, Premature graying of hair, Ocular albinism, Wh... OMIM:611584
Gapo Syndrome
Sparse eyebrow, Alopecia, Hypopigmented skin patches, Hypogonadism, Sparse eyelashes, Dysmenorrhe... ORPHA:2067
Oculocerebral Hypopigmentation Syndrome, Preus Type
Iris hypopigmentation, White hair, Ocular albinism, Generalized hypopigmentation, High palate ORPHA:2720
Wiskott-Aldrich Syndrome
Hematochezia, Inflammation of the large intestine, Sepsis, Blepharitis, Eczematoid dermatitis, Ke... ORPHA:906
Waardenburg Syndrome, Type 1
Premature graying of hair, Partial albinism, Thick eyebrow, White forelock, Heterochromia iridis,... OMIM:193500
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse pubic hair, Sparse eyebrow, Xerostomia, Fair hair, Rectovaginal fistula, Blepharitis, Spar... OMIM:129900
Galloway-Mowat Syndrome 7
Minimal change glomerulonephritis, Eczematoid dermatitis, Hypercholesterolemia, High palate, Clef... OMIM:618348
Hypohidrotic Ectodermal Dysplasia
Generalized hypopigmentation of hair, Irregular hyperpigmentation, Xerostomia, Eczematoid dermati... ORPHA:238468
Sitosterolemia 1
Hyperapobetalipoproteinemia, Xanthelasma, Reduced haptoglobin level, Elevated circulating sitoste... OMIM:210250
Carney Complex, Type 1
Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented skin lesions OMIM:160980
Cystinosis, Nephropathic
Pigmentary retinopathy, Decreased circulating carnitine concentration, Hypopigmentation of the sk... OMIM:219800
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Incontinentia Pigmenti
Alopecia, Ridged fingernail, Irregular hyperpigmentation, Hypopigmented skin patches, Dystrophic ... ORPHA:464
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
White hair, Fine hair, Malabsorption, Agammaglobulinemia, Aganglionic megacolon, Recurrent respir... ORPHA:935
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Malnutrition, Erythroderma, Abdominal pain, Mixe... ORPHA:79456
Neuhauser Syndrome
Bifid uvula, Low anterior hairline, Hypercholesterolemia, Iris transillumination defect, High pal... OMIM:249310
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Diarrhea, Xerostomia, Inflammatory abnormality of the skin, Oral-pharyngeal dysphagia, Abdominal ... ORPHA:95455
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair, Decreased circulating cortisol level, Hyperbilirubinemia OMIM:609734
Galloway-Mowat Syndrome 1
Hypoalbuminemia, Hypopigmentation of the skin, Small nail, Hiatus hernia, High palate, Feeding di... OMIM:251300
Low Phospholipid-Associated Cholelithiasis
Abdominal colic, Cholecystitis, Sclerosing cholangitis, Neoplasm of the liver, Hypercholesterolem... ORPHA:69663
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Hypogonadotropic hypogonadism, Aplastic/hypoplastic toenail, Hypopigmented skin patches, Synophrys ORPHA:1295
Acrodysostosis 2 With Or Without Hormone Resistance
Fair hair, Red hair, Blue irides OMIM:614613
Chromomycosis
Recurrent bacterial infections, Keratoconjunctivitis sicca, Keratitis, Hypopigmented skin patches ORPHA:182
Hoyeraal-Hreidarsson Syndrome
Bone marrow hypocellularity, Generalized hypopigmentation of hair, Oral leukoplakia, Premature gr... ORPHA:3322
Dysbetalipoproteinemia
Xanthelasma, Increased LDL cholesterol concentration, Gout, Hypertriglyceridemia, Hypercholestero... ORPHA:412
Acrofrontofacionasal Dysostosis
Hypopigmented skin patches, Anonychia, Aplasia/Hypoplasia of the eyebrow, High palate, Brushfield... ORPHA:1784
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hepatitis, Hypertriglyceridemia ORPHA:209902
Curry-Jones Syndrome
Generalized hirsutism, Intestinal malrotation, Hypopigmented skin patches ORPHA:1553
Primary Sclerosing Cholangitis
Hypoalbuminemia, Uveitis, Hepatitis, Celiac disease, Acute hepatic failure, Chronic hepatic failu... ORPHA:171
Pancreatic Triacylglycerol Lipase Deficiency
Diarrhea, Exocrine pancreatic insufficiency, Colitis, Keratoconjunctivitis sicca, Abdominal diste... ORPHA:309031
Infantile Krabbe Disease
Vomiting, Gastroesophageal reflux, Hypopigmented skin patches, Nasogastric tube feeding in infanc... ORPHA:206436
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
High, narrow palate, Hypopigmentation of the skin, Vomiting, Short uvula, Poor suck, Osteomyeliti... OMIM:619475
Mosaic Trisomy 8
High palate, Hypopigmentation of the skin, Hypopigmented skin patches, Cleft palate ORPHA:96061
Mandibuloacral Dysplasia With Type A Lipodystrophy
Alopecia, Mottled pigmentation, Hyperlipidemia, Hypercholesterolemia, Calcinosis, High palate, Sp... OMIM:248370
Lmna-Related Cardiocutaneous Progeria Syndrome
Alopecia universalis, Premature graying of hair, Absent eyelashes, Hypercholesterolemia, Absent e... ORPHA:363618
Plague
Inflammation of the large intestine, Diarrhea, Lymphadenitis, Ileitis, Acute infectious pneumonia... ORPHA:707
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Sparse pubic hair, Sparse eyebrow, Xerostomia, Fair hair, Blepharitis, Anal stenosis, Anteriorly ... OMIM:604292
X-Linked Intellectual Disability, Nascimento Type
Abnormal hair whorl, Neonatal hyperbilirubinemia, Lumbar hypertrichosis, Nail dystrophy, Chronic ... ORPHA:163956
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hypopigmentation of the skin, Recurrent otitis media, Cholecystitis, Chronic constipation, Cleft ... OMIM:301066
Epidermal Nevus Syndrome
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:35125
Intellectual Developmental Disorder, Autosomal Recessive 78
High palate, Hypopigmentation of the skin OMIM:620237
Oculocerebrorenal Syndrome Of Lowe
Narrow palate, Gastroesophageal reflux, Periodontitis, Fine hair, Hyperaldosteronism, Azoospermia... ORPHA:534
Koolen-De Vries Syndrome Due To A Point Mutation
Alopecia, Hypopigmentation of the skin, Fair hair, Eczematoid dermatitis, Recurrent urinary tract... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Alopecia, Hypopigmentation of the skin, Fair hair, Eczematoid dermatitis, Recurrent urinary tract... ORPHA:363958
Oligoarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Rheumatoid arthritis, Increased circulating inter... ORPHA:85410
Intrahepatic Cholestasis Of Pregnancy
Abnormal circulating interleukin concentration, Hyperbilirubinemia, Cholecystitis, Increased seru... ORPHA:69665
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Cocaine Intoxication
Vomiting, Gastrointestinal infarctions, Elevated circulating creatine kinase concentration, Nause... ORPHA:90068
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Nail dystrophy, Hypercholesterolemia, Small nail, Hypertriglyceridemia OMIM:610644
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Alopecia of scalp, Nail dystrophy, Hypomelanotic macule, Freckling, Hypermelanotic macule OMIM:618373
Turner Syndrome Due To Structural X Chromosome Anomalies
Inflammation of the large intestine, Recurrent otitis media, Gastrointestinal angiodysplasia, Low... ORPHA:99413
Turner Syndrome
Inflammation of the large intestine, Recurrent otitis media, Gastrointestinal angiodysplasia, Low... ORPHA:881
Mosaic Monosomy X
Inflammation of the large intestine, Recurrent otitis media, Gastrointestinal angiodysplasia, Low... ORPHA:99228
Monosomy X
Inflammation of the large intestine, Recurrent otitis media, Gastrointestinal angiodysplasia, Low... ORPHA:99226
Eec Syndrome
Sparse eyebrow, Coarse hair, Xerostomia, Blepharitis, Fine hair, Keratitis, Thick eyebrow, Nail d... ORPHA:1896
Rothmund-Thomson Syndrome, Type 3
Sparse eyebrow, Spotty hyperpigmentation, Spotty hypopigmentation, Recurrent infections, Sparse s... OMIM:615789
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Melanocytic nevus, Abnormality of retinal pigmentation, Short hard palate, Multiple cafe-au-lait ... ORPHA:1969
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Vomiting, Eczematoid dermatitis, Chronic hepatitis, Malabso... ORPHA:3260
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Iris transillumination defect, Generalized hypopigmentation OMIM:617306
Acquired Aneurysmal Subarachnoid Hemorrhage
Nausea, Vomiting, Hypercholesterolemia ORPHA:90065
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure, Menorrhagia ORPHA:331
Ruvalcaba Syndrome
Generalized hirsutism, Hypopigmented skin patches ORPHA:3121
Lysosomal Acid Lipase Deficiency
Hepatic failure, Diarrhea, Abdominal distention, Vomiting, Decreased liver function, Malnutrition... ORPHA:275761
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Hypopigmented skin patches, Fine hair, Multiple cafe-au-lait spots, Aplasia/Hypoplasia of the eye... ORPHA:2637
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypopigmented skin patches, Short-segment aganglionic megacolon, Ileus, White forelock, Heterochr... OMIM:609136
Oculocerebrocutaneous Syndrome
Abnormal fingernail morphology, Alopecia, Hypopigmented skin patches ORPHA:1647
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Psoriasiform derma... OMIM:106300
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Rheumatoid arthritis, Recurrent otitis media, Vitiligo, Recurrent sinusitis, Juvenile ... OMIM:607944
Megalocornea-Intellectual Disability Syndrome
High palate, Hypercholesterolemia ORPHA:2479
Fumarase Deficiency
Hepatic failure, High palate, Hyperbilirubinemia, Necrotizing enterocolitis OMIM:606812
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Intestinal malrotation, Cleft soft palate, Hypoplasia of the ovary, Generalized hypopig... OMIM:619321
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Hirsutism, Hypercholesterolemia, Decreased HDL cholesterol concentration, A... OMIM:151660
Focal Dermal Hypoplasia
Hypopigmentation of the skin, Anteriorly placed anus, Supernumerary nipple, Intestinal malrotatio... OMIM:305600
Koolen-De Vries Syndrome
High, narrow palate, Narrow palate, Feeding difficulties in infancy, Abnormality of hair texture,... ORPHA:96169
Hereditary Acrokeratotic Poikiloderma
Irregular hyperpigmentation, Xerostomia, Dystrophic toenail, Hypopigmented skin patches, Eczemato... ORPHA:2907
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Inflammation of the large intestine, Absent uvula, Intestinal atresia, Rectovaginal fistula, Dysp... OMIM:619708
Pemphigus Erythematosus
Malar rash, Hypopigmented skin patches ORPHA:79480
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatic failure, Hypercholesterolemia, Hyperammonemia OMIM:620454
Bardet-Biedl Syndrome
Irregular menstruation, Inflammation of the large intestine, Celiac disease, Decreased HDL choles... ORPHA:110
Harrod Syndrome
High palate, Hypopigmented skin patches ORPHA:2115
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin concentration, Feeding difficulti... ORPHA:90674
Frontometaphyseal Dysplasia 2
Bifid uvula, Gastroesophageal reflux, Thick eyebrow, Hirsutism, Low anterior hairline, Feeding di... OMIM:617137
Fanconi Anemia
Irregular hyperpigmentation, Meckel diverticulum, Hypopigmented skin patches, Recurrent urinary t... ORPHA:84
Gaisböck Syndrome
Peptic ulcer, Gout, Cholecystitis, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyp... ORPHA:90041
Brittle Cornea Syndrome 1
Red hair OMIM:229200
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Abnormality of T cell physiology, Increased circulating anti... OMIM:181000
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Hypopigmented skin patches ORPHA:2715
Pitt-Hopkins Syndrome
Gastroesophageal reflux, Hypopigmented skin patches, Supernumerary nipple, Esophagitis, Hiatus he... ORPHA:2896
Atypical Werner Syndrome
Abnormal hair whorl, Alopecia, Premature graying of hair, Abnormal hair morphology, Sparse body h... ORPHA:79474
Bardet-Biedl Syndrome 20
Male hypogonadism, Pancreatitis, Hypercholesterolemia OMIM:619471
Sarcoidosis
Alopecia, Hypopigmentation of the skin, Hepatic failure, Decreased liver function, Parotitis, Enl... ORPHA:797
Xeroderma Pigmentosum
Alopecia, Keratitis, Hypopigmented skin patches, Hypogonadism, Melanocytic nevus, Freckling, Hype... ORPHA:910
Duane Retraction Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Central heterochromia, Anorectal anomaly... ORPHA:233
Menkes Disease
Gastrointestinal hemorrhage, Sepsis, Osteomyelitis, Malabsorption, Nausea and vomiting, Woolly ha... ORPHA:565
Steinert Myotonic Dystrophy
Abnormality of the tongue muscle, Alopecia, Male hypogonadism, Impotence, Diarrhea, Oral-pharynge... ORPHA:273
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Gastroesophageal reflux, Hypopigmented skin patches, Impaired T cell... ORPHA:567
Lipodystrophy, Familial Partial, Type 7
Pigmentary retinopathy, Diarrhea, Vomiting, Feeding difficulties, Recurrent pancreatitis, Hyperch... OMIM:606721
Smith-Lemli-Opitz Syndrome
Gastroesophageal reflux, Microglossia, Elevated circulating 7-dehydrocholesterol concentration, A... ORPHA:818
Brittle Cornea Syndrome
Cleft palate, Abnormality of hair pigmentation ORPHA:90354
Chronic Thromboembolic Pulmonary Hypertension
Elevated circulating C-reactive protein concentration, Osteomyelitis, Inflammation of the large i... ORPHA:70591
Mosaic Trisomy 20
Hypopigmented streaks, Depigmentation/hyperpigmentation of skin, Cleft palate, Chronic constipation ORPHA:1724
Kindler Syndrome
Anal stenosis, Periodontitis, Spotty hyperpigmentation, Oral leukoplakia, Ridged nail, Spotty hyp... OMIM:173650
Neurofibromatosis Type 1
Inguinal freckling, Hypopigmented skin patches, Melanocytic nevus, Generalized hyperpigmentation,... ORPHA:636
Mowat-Wilson Syndrome
Bifid uvula, Submucous cleft of soft and hard palate, Vomiting, Horizontal eyebrow, Bowel inconti... ORPHA:2152
Mend Syndrome
Elevated 8(9)-cholestenol, Spotty hypopigmentation, Elevated 8-dehydrocholesterol, High palate, C... ORPHA:401973
Familial Tumoral Calcinosis
Skin rash, Hypopigmented skin patches ORPHA:53715
Microphthalmia With Linear Skin Defects Syndrome
Hypopigmented skin patches, Abnormal rectum morphology, Abnormality of retinal pigmentation, Hype... ORPHA:2556
Sotos Syndrome
Hypopigmentation of the skin, Gastroesophageal reflux, Small nail, Sparse anterior scalp hair, De... ORPHA:821
Cowden Syndrome
Hypopigmented skin patches, Furrowed tongue, Melanocytic nevus, Hamartomatous polyposis, Multiple... ORPHA:201
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Coarse hair, High palate, Widow's peak, Hypopigmentation of hair ORPHA:1974
Pallister-Killian Syndrome
Hyperpigmented streaks, Bifid uvula, Sparse eyebrow, Hypopigmentation of the skin, Alopecia, Anal... OMIM:601803
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Hypopigmentation of hair, Ocular albinism ORPHA:2719
Alagille Syndrome 1
Pigmentary retinopathy, Hepatic failure, Exocrine pancreatic insufficiency, Hypercholesterolemia,... OMIM:118450
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines, Cafe-au-lait s... OMIM:210720
X-Linked Intellectual Disability, Snyder Type
Sparse eyebrow, Patchy hypo- and hyperpigmentation, Testicular atrophy, High palate, Cleft palate... ORPHA:3063
Tetragametic Chimerism
Hypopigmented skin patches ORPHA:199310
Lowe Oculocerebrorenal Syndrome
Elevated amniotic fluid alpha-fetoprotein, Elevated circulating creatine kinase concentration, Co... OMIM:309000
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Gastroesophageal reflux, Increased circulating ferritin concentration, Elevated ... OMIM:619534
Mend Syndrome
Spotty hypopigmentation, High palate OMIM:300960
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:391665
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
OMIM:618392

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Mbtps1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Mbtps1.

No publications found that use IMPC mice or data for Mbtps1.

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MGI Allele Allele Type Produced
Mbtps1tm3e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Mbtps1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Mbtps1tm3a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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